Aldehyde dehydrogenase, mitochondrial

Function

Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage.

Classification

Family (Pfam)

PF00171 Aldedh

InterPro

Ald_DH/histidinol_DH, Ald_DH_C, Ald_DH_CS_CYS, Ald_DH_CS_GLU, Ald_DH_N, Aldehyde_DH_dom

Functional cluster

Oxidoreductases & Polyketide Synthases

Experimental structures · PDB · 29

• 1CW3 X-ray 2.58A
• 1NZW X-ray 2.65A
• 1NZX X-ray 2.45A
• 1NZZ X-ray 2.45A
• 1O00 X-ray 2.60A
• 1O01 X-ray 2.15A
• 1O02 X-ray 1.90A
• 1O04 X-ray 1.42A
• 1O05 X-ray 2.25A
• 1ZUM X-ray 2.10A
• 2ONM X-ray 2.50A
• 2ONN X-ray 2.75A
• … and 17 more

A predicted model is available from AlphaFold.

Gene Ontology · 18

• GO:0070062 extracellular exosome
• GO:0005759 mitochondrial matrix
• GO:0005739 mitochondrion
• GO:0004029 aldehyde dehydrogenase (NAD+) activity
• GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
• GO:0106435 carboxylesterase activity
• GO:0009055 electron transfer activity
• GO:0051287 NAD binding
• GO:0008957 phenylacetaldehyde dehydrogenase (NAD+) activity
• GO:0006066 alcohol metabolic process
• GO:0046185 aldehyde catabolic process
• GO:0005975 carbohydrate metabolic process
• GO:0110095 cellular detoxification of aldehyde
• GO:0006068 ethanol catabolic process
• GO:0006067 ethanol metabolic process
• GO:0018937 nitroglycerin metabolic process
• GO:1903179 regulation of dopamine biosynthetic process
• GO:1905627 regulation of serotonin biosynthetic process

Disease associations

• OMIM:100650 RAW:OMIM_100650
• alcohol sensitivity, acute MONDO:0012454
• AMED syndrome, digenic MONDO:0030894

Drugs targeting this protein · 1

• DISULFIRAM inhibitor

Related proteins · sequence + function similarity

• Aldehyde dehydrogenase, mitochondrial 1.00
• Aldehyde dehydrogenase, mitochondrial 0.99
• Aldehyde dehydrogenase, mitochondrial 0.99
• Aldehyde dehydrogenase, mitochondrial 0.99
• Aldehyde dehydrogenase, mitochondrial 0.99
• Aldehyde dehydrogenase, mitochondrial 0.97
• Aldehyde dehydrogenase, mitochondrial 0.96
• Aldehyde dehydrogenase family 1 member B1, mitochondrial 0.96
• Aldehyde dehydrogenase family 1 member B1, mitochondrial 0.95
• Benzaldehyde dehydrogenase, mitochondrial 0.94
• Aldehyde dehydrogenase family 1 member B1, mitochondrial 0.94
• Aldehyde dehydrogenase 1A1 0.94

Co-cited proteins · studied together in the literature

• Aldehyde dehydrogenase 1A1 2 shared papers
• Alcohol dehydrogenase class-3 1 shared papers
• Citrate synthase, mitochondrial 2 shared papers
• Annexin A6 1 shared papers
• Ras suppressor protein 1 1 shared papers
• Acetyl-CoA acetyltransferase, mitochondrial 1 shared papers
• Cytochrome c oxidase subunit 8A, mitochondrial 1 shared papers
• ATP synthase peripheral stalk subunit OSCP, mitochondrial 1 shared papers
• Protein NipSnap homolog 1 1 shared papers
• Ubiquinone biosynthesis protein COQ9, mitochondrial 1 shared papers
• 3-ketoacyl-CoA thiolase, mitochondrial 1 shared papers
• E3 ubiquitin-protein ligase KCMF1 1 shared papers

Literature · 19 cited papers

• Stress response silencing by an E3 ligase mutated in neurodegeneration. Nature · 2024
• Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci. Adv. · 2020
• An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
• Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
• The finished DNA sequence of human chromosome 12. Nature · 2006
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
• Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. Biochem. J. · 2004
• Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
• Human liver mitochondrial aldehyde dehydrogenase: three-dimensional structure and the restoration of solubility and activity of chimeric forms. Protein Sci. · 1999
• Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations: detection of new ALDH2 alleles. Alcohol. Clin. Exp. Res. · 1995
• Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. Proc. Natl. Acad. Sci. U.S.A. · 1984
• Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. Eur. J. Biochem. · 1985
• … and 7 more in the literature graph